Regulating synaptic membrane exocytosis 1 (RIMS1) Associated conditions: 1. Leber congenital amaurosis 2. Autism spectrum disorder
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001350448.2 | NP_001337377.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 2 | REVIEWED | NM_001350458.2 | NP_001337387.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 3 | REVIEWED | NM_001350457.2 | NP_001337386.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 4 | REVIEWED | NM_001350456.2 | NP_001337385.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 5 | REVIEWED | NM_001350455.2 | NP_001337384.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 6 | REVIEWED | NM_001350454.2 | NP_001337383.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 7 | REVIEWED | NM_001350452.2 | NP_001337381.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 8 | REVIEWED | NM_001350450.2 | NP_001337379.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 9 | REVIEWED | NM_001350449.2 | NP_001337378.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 10 | REVIEWED | NM_001350459.2 | NP_001337388.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 11 | REVIEWED | NM_001350447.2 | NP_001337376.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 12 | REVIEWED | NM_001350446.2 | NP_001337375.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 13 | REVIEWED | NM_001350445.2 | NP_001337374.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 14 | REVIEWED | NM_001350444.2 | NP_001337373.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 15 | REVIEWED | NM_001350443.2 | NP_001337372.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 16 | REVIEWED | NM_001350442.2 | NP_001337371.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 17 | REVIEWED | NM_001350441.2 | NP_001337370.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 18 | REVIEWED | NM_001350467.2 | NP_001337396.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 19 | REVIEWED | NM_014989.7 | NP_055804.2 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 20 | REVIEWED | NM_001350474.2 | NP_001337403.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 21 | REVIEWED | NM_001350473.2 | NP_001337402.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 22 | REVIEWED | NM_001350472.2 | NP_001337401.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 23 | REVIEWED | NM_001350471.2 | NP_001337400.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 24 | REVIEWED | NM_001350470.2 | NP_001337399.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 25 | REVIEWED | NM_001350469.2 | NP_001337398.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 26 | REVIEWED | NM_001350468.2 | NP_001337397.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 27 | REVIEWED | NM_001350440.2 | NP_001337369.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 28 | REVIEWED | NM_001350466.2 | NP_001337395.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 29 | REVIEWED | NM_001350465.2 | NP_001337394.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 30 | REVIEWED | NM_001350464.2 | NP_001337393.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 31 | REVIEWED | NM_001350463.2 | NP_001337392.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 32 | REVIEWED | NM_001350462.2 | NP_001337391.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 33 | REVIEWED | NM_001350461.2 | NP_001337390.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 34 | REVIEWED | NM_001350460.2 | NP_001337389.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 35 | REVIEWED | NM_001350414.2 | NP_001337343.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 36 | REVIEWED | NM_001350422.2 | NP_001337351.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 37 | REVIEWED | NM_001350421.2 | NP_001337350.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 38 | REVIEWED | NM_001350420.2 | NP_001337349.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 39 | REVIEWED | NM_001350419.2 | NP_001337348.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 40 | REVIEWED | NM_001350418.2 | NP_001337347.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 41 | REVIEWED | NM_001350417.2 | NP_001337346.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 42 | REVIEWED | NM_001350416.2 | NP_001337345.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 43 | REVIEWED | NM_001350415.2 | NP_001337344.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 44 | REVIEWED | NM_001350423.2 | NP_001337352.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 45 | REVIEWED | NM_001350413.1 | NP_001337342.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 46 | REVIEWED | NM_001350412.1 | NP_001337341.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 47 | REVIEWED | NM_001350411.1 | NP_001337340.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 48 | REVIEWED | NM_001168411.2 | NP_001161883.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 49 | REVIEWED | NM_001168410.2 | NP_001161882.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 50 | REVIEWED | NM_001168409.2 | NP_001161881.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 51 | REVIEWED | NM_001168408.2 | NP_001161880.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 52 | REVIEWED | NM_001350431.2 | NP_001337360.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 53 | REVIEWED | NM_001350439.2 | NP_001337368.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 54 | REVIEWED | NM_001350438.2 | NP_001337367.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 55 | REVIEWED | NM_001350437.2 | NP_001337366.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 56 | REVIEWED | NM_001350436.2 | NP_001337365.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 57 | REVIEWED | NM_001350435.2 | NP_001337364.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 58 | REVIEWED | NM_001350434.2 | NP_001337363.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 59 | REVIEWED | NM_001350433.2 | NP_001337362.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 60 | REVIEWED | NM_001350432.2 | NP_001337361.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 61 | REVIEWED | NM_001168407.2 | NP_001161879.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 62 | REVIEWED | NM_001350430.2 | NP_001337359.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 63 | REVIEWED | NM_001350429.2 | NP_001337358.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 64 | REVIEWED | NM_001350428.2 | NP_001337357.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 65 | REVIEWED | NM_001350427.2 | NP_001337356.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 66 | REVIEWED | NM_001350426.2 | NP_001337355.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 67 | REVIEWED | NM_001350425.2 | NP_001337354.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
| 68 | REVIEWED | NM_001350424.2 | NP_001337353.1 | NC_000006.12 | (71886549..72403144) | Reference GRCh38.p14 Primary Assembly | Q86UR5 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Regulating synaptic membrane exocytosis 1 (RIMS1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | HDA | enables | RNA binding | Function | 22658674 |
| 2 | Homo sapiens | IPI | enables | protein binding | Function | 11438518 17474147 33864728 36115835 37207277 |
| 3 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 4 | Homo sapiens | IEA | located_in | plasma membrane | Component | - |
| 5 | Homo sapiens | ISS | located_in | plasma membrane | Component | - |
| 6 | Homo sapiens | IEA | involved_in | neurotransmitter transport | Process | - |
| 7 | Homo sapiens | IEA | involved_in | intracellular protein transport | Process | - |
| 8 | Homo sapiens | IEA | involved_in | exocytosis | Process | - |
| 9 | Homo sapiens | IEA | involved_in | visual perception | Process | - |
| 10 | Homo sapiens | IEA | enables | zinc ion binding | Function | - |
| 11 | Homo sapiens | ISS | involved_in | positive regulation of gene expression | Process | - |
| 12 | Homo sapiens | IEA | located_in | membrane | Component | - |
| 13 | Homo sapiens | TAS | involved_in | synaptic vesicle exocytosis | Process | 11438518 |
| 14 | Homo sapiens | IBA | involved_in | synaptic vesicle docking | Process | - |
| 15 | Homo sapiens | IBA | involved_in | synaptic vesicle priming | Process | - |
| 16 | Homo sapiens | TAS | involved_in | calcium-ion regulated exocytosis | Process | 11438518 |
| 17 | Homo sapiens | IEA | involved_in | cell differentiation | Process | - |
| 18 | Homo sapiens | TAS | enables | GTPase regulator activity | Function | 11438518 |
| 19 | Homo sapiens | IEA | enables | small GTPase binding | Function | - |
| 20 | Homo sapiens | ISS | enables | small GTPase binding | Function | - |
| 21 | Homo sapiens | IBA | is_active_in | presynaptic membrane | Component | - |
| 22 | Homo sapiens | IEA | located_in | presynaptic membrane | Component | - |
| 23 | Homo sapiens | ISS | located_in | presynaptic membrane | Component | - |
| 24 | Homo sapiens | NAS | located_in | presynaptic membrane | Component | 11438518 |
| 25 | Homo sapiens | NAS | involved_in | regulated exocytosis | Process | 11438518 |
| 26 | Homo sapiens | IEA | located_in | synapse | Component | - |
| 27 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 28 | Homo sapiens | NAS | involved_in | secretion | Process | 11438518 |
| 29 | Homo sapiens | TAS | involved_in | regulation of neurotransmitter secretion | Process | 15217342 |
| 30 | Homo sapiens | IEA | located_in | presynaptic active zone | Component | - |
| 31 | Homo sapiens | TAS | located_in | presynaptic active zone | Component | 15217342 |
| 32 | Homo sapiens | IEA | involved_in | maintenance of presynaptic active zone structure | Process | - |
| 33 | Homo sapiens | IDA | involved_in | acrosomal vesicle exocytosis | Process | 22248876 |
| 34 | Homo sapiens | NAS | involved_in | membrane fusion | Process | 11438518 |
| 35 | Homo sapiens | IDA | involved_in | protein-containing complex assembly | Process | 11438518 |
| 36 | Homo sapiens | ISS | involved_in | positive regulation of inhibitory postsynaptic potential | Process | - |
| 37 | Homo sapiens | IBA | is_active_in | presynaptic active zone cytoplasmic component | Component | - |
| 38 | Homo sapiens | IBA | enables | structural constituent of presynaptic active zone | Function | - |
| 39 | Homo sapiens | IDA | involved_in | positive regulation of dendrite extension | Process | 23999003 |
| 40 | Homo sapiens | IEA | involved_in | positive regulation of dendrite extension | Process | - |
| 41 | Homo sapiens | IBA | involved_in | regulation of synaptic vesicle exocytosis | Process | - |
| 42 | Homo sapiens | ISS | involved_in | positive regulation of excitatory postsynaptic potential | Process | - |